Chen, 2015: Overview of all reported MxMD-ADCY5 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
0
|
22
|
No
|
-Motor
Motor delay Axial hypotonia Dysarthria Cerebellar signs Myoclonus Chorea Paroxysmal dyskinesia Facial twitches Dyskinesia Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
9
|
No
|
Axial hypotonia
Gait impairment Seizures -Motor Dysarthria Dyskinesia Delayed gross motor development Hyperreflexia Motor delay Myoclonus Show more (+7) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
5
|
42
|
Yes
|
Tremor (any or unspecified)
Postural tremor Dyskinesia -Motor Chorea Trigger: Anxiety Show more (+3) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
14
|
No
|
Chorea
Facial twitches Dysarthria Cerebellar signs Axial hypotonia Dyskinesia Hyperreflexia -Motor Cognitive impairment Myoclonus Show more (+7) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
29
|
No
|
n.a.
|
||
No
|
♀
|
C
|
USA
|
3
|
71
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
n.a.
|
42
|
No
|
n.a.
|
||
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
8
|
Yes
|
Dyskinesia
Dystonia, axial Axial hypotonia Gait impairment -Motor Dystonia, limb Motor delay Muscular hypotonia Show more (+5) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
1
|
68
|
Yes
|
n.a.
|
||
Yes
|
♂
|
n.a.
|
n.a.
|
2
|
13
|
No
|
n.a.
|